If you suspect your child may have Lowe syndrome, you’re doing the most important thing a parent can do: paying close attention and working with doctors to get the answers you need. One symptom rarely tells the whole story, but a pattern can. This page walks through the signs that, together, often lead families toward a Lowe syndrome diagnosis.
The Three Systems Involved
Lowe syndrome is also called oculo-cerebro-renal syndrome (OCRL), a name that points to the three body systems it affects: the eyes (oculo), the brain (cerebro), and the kidneys (renal). It is caused by a change in the OCRL gene, and because that gene is on the X chromosome, it almost exclusively affects boys. Not every individual will have every symptom, and severity varies widely.
If your son has some, but not all, of these signs, that’s normal. Lowe syndrome looks different in every individual, and the full picture often comes together over months, not days.
Getting a Confirmed Diagnosis
A physician often considers Lowe syndrome when a male infant has congenital cataracts along with hypotonia and signs of kidney issues. From there, a genetic counselor or your child’s doctor can order testing for the OCRL gene, which is the most direct path to a definitive answer. Learn more about the process of genetic testing.
You Don’t Have to Wait for a Diagnosis to Reach Out
Families come to us at every stage—some with a confirmed diagnosis, some with a list of symptoms and a hunch, and some trying to connect the dots between specialists. We have been in your shoes and we can help you figure out your next step, whether that’s finding a specialist, understanding a test result, or simply talking to another parent who can relate.